Study of prevalence of thrombophilic genes (FVL G1691A, prothrombin G20210A and MTHFR C677T) polymorphisms in patients with venous thromboembolism in Benha university hospital; cross sectional study.

: Background: Venous thromboembolism (VTE) is a common and potentially lethal disorder that manifests mainly as deep vein thrombosis (DVT) of the extremities or pulmonary embolism (PE) and occurs because of genetic and environmental risk factors. Aim of the study: To evaluate the genetic markers Factor V Leiden (G1691A), Prothrombin gene (PT G20210) and methylene tetra hydro folate reductase (MTHFR C677T) polymorphisms in high-risk patients with venous thromboembolism in Benha University Hospital. Patients and Methods: The study consisted of 20 patients of both sexes divided into three groups lower limb DVT group, isolated PE group and DVT complicated by PE group. A venous blood sample collected from patients was used to detect Factor V Leiden (G1691A), Prothrombin gene (G20210A) and methylene tetra hydro folate reductase (MTHFR C677T) polymorphisms by real time polymerase chain reaction (PCR) genotyping. Results: We found that the highest genotyping frequency was FVL G1691A polymorphism found in 8 patients (72.7.0%) of included patients with thrombophilic gene polymorphisms, the lowest frequency was F2 G20210A polymorphism found in 2 patients (18.0%) and 5 patients (45%) had MTHFRC677T polymorphism of included patients with thrombophilic gene polymorphisms. FVL G1691A had the highest percentage of 3 patients (25.0%) in lower limb DVT group then MTHFRC677T 2 patients (16.7%) and the lowest percentage was prothrombin G20210A one patient (8.3%). FVL G1691A and MTHFRC677T had an equal percentage in pulmonary thromboembolism group, 2 patients (40.0%) having each polymorphism which is higher than prothrombin G20210A (0.0%) that wasn’t detected in this group. FVL G1691A had the highest percentage, 3 patients (100.0) in DVT and pulmonary embolism group while prothrombin G20210A and MTHFRC677T had an equal percentage, one patient (33.3%) having each polymorphism. The genotyping frequency of these polymorphisms had no statistically significant difference between VTE subgroups. Conclusion: The present study performed a review of genetic variants associated with venous thromboembolism for understanding the underlying etiology and our results give a strategy of diagnostic evaluations for the individuals at high risk of venous thromboembolism.